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rs58414354

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58414354(G;G)
Make rs58414354(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position40822108
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs58414354
ebirs58414354
HLIrs58414354
Exacrs58414354
Varsomers58414354
Maprs58414354
PheGenIrs58414354
hapmaprs58414354
1000 genomesrs58414354
hgdprs58414354
ensemblrs58414354
gopubmedrs58414354
geneviewrs58414354
scholarrs58414354
googlers58414354
pharmgkbrs58414354
gwascentralrs58414354
openSNPrs58414354
23andMers58414354
23andMe allrs58414354
SNP Nexus

SNPshotrs58414354
SNPdbers58414354
MSV3drs58414354
GWAS Ctlgrs58414354
Max Magnitude0
OMIM148080
Desc
Variant0008
Relatedalso


ClinVar
Risk rs58414354(G;G)
Alt rs58414354(G;G)
Reference rs58414354(T;T)
Significance Pathogenic
Disease Bullous ichthyosiform erythroderma not provided
Variation info
Gene KRT10 TMEM99
CLNDBN Bullous ichthyosiform erythroderma not provided
Reversed 1
HGVS NC_000017.10:g.38978360A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015673.25, RCV000056501.1,